|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Inherited thrombophilias that have been implicated in venous thromboembolism and poor pregnancy outcome and for which standard tests are generally available are antithrombin III deficiency, the factor V Leiden mutation, prothrombin G20210A mutation and the C677T polymorphism in the methylenetetrahydrofolate reductase system implicated in mild hyperhomocysteinaemia.
|
14624217 |
2003 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'.
|
21878957 |
2012 |
|
Hyperhomocysteinemia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
ASRM: American Society of Reproductive Medicine; HHCY: hyperhomocysteinemia; MTHFR: methylenetetrahydrofolate reductase; PCR: polymerase chain reaction; PAGE: poly-acrylamide gel electrophoresis; RPL: recurrent pregnancy loss.
|
29658346 |
2018 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the levels of serum folate, vitamin B-12 and Hcy in epileptic patients receiving carbamazepine (CBZ) or valproic acid (VPA) as monotherapy, and we also evaluated the probable contribution of the C677T variant of MTHFR gene in hyperhomocysteinemia.
|
18234410 |
2008 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example, plasma Hcy-thiolactone was found to be elevated 59-72-fold in human patients with hyperhomocysteinemia secondary to mutations in methylenetetrahydrofolate reductase (MTHFR) or cystathionine beta-synthase (CBS) genes.
|
19261978 |
2008 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The methylenetetrahydrofolate reductase C677T genotype was not a predictor of hyperhomocysteinemia or CAC status.
|
16802358 |
2006 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation A1298C of methylenetetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia.
|
11343335 |
2001 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Relationship between thiolactonase activity and hyperhomocysteinemia according to MTHFR gene polymorphism in Tunisian Behçet's disease patients.
|
18076365 |
2008 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The C677T variant of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the remethylation of homocysteine to methionine, is a frequent genetic cause of mild hyperhomocysteinemia among individuals with low folate status.
|
14608052 |
2003 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
C677T polymorphism in methylenetetrahydrofolate reductase gene (MTHFR) is a major determinant of hyperhomocysteinemia, which results in endothelial dysfunction.
|
15226090 |
2004 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
None of the five cases of heterozygous C677T MTHFR polymorphism had hyperhomocysteinemia.
|
23337710 |
2013 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians.
|
17287626 |
2007 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report here on a case of occlusive stroke at young age and hyperhomocysteinemia with homozygous VN (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene.
|
11460881 |
2001 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hyperhomocysteinemia was associated with the TT genotype of MTHFR (r = 0.367; P = .001).
|
15834927 |
2005 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects.
|
17510921 |
2007 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of homocysteine and presents a common mutation (C677T) that leads to a thermolabile enzyme, mild hyperhomocysteinemia, and increased CAD risk.
|
18075008 |
2007 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the performance of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in predicting hyperhomocysteinemia (HHcy) in Chinese patients with hypertension.
|
24459043 |
2015 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among the IBD patients the only independent factor significantly associated with hyperhomocysteinemia was folate deficiency (p = 0.0002), regardless of the MTHFR or the CBS genotype.
|
11569694 |
2001 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations.
|
16262529 |
2005 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR) mutations are commonly associated with hyperhomocysteinemia, and, through their defects in homocysteine metabolism, they have been implicated as risk factors for neural tube defects and unexplained, recurrent embryo losses in early pregnancy.
|
10958762 |
2000 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Certain mutations (TT homozygous; CT heterozygous; CC wild-type) of the methylenetetrahydrofolate (MTHFR) gene and long-term levodopa application in patients with Parkinson's disease (PD) support onset of hyperhomocysteinemia.
|
15354385 |
2004 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea.
|
16958597 |
2006 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice.
|
16917400 |
2006 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mild hyperhomocysteinemia seen in fasting conditions is due to mild impairment in the methylation pathway (i.e. folate or B12 deficiencies or methylenetetrahydrofolate reductase thermolability).
|
10448523 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MTHFR C677T gene polymorphism associated with a predisposition to hyperhomocysteinemia could constitute a useful predictive marker for ischemic stroke in type 2 diabetic Chinese patients.
|
19934557 |
2010 |